When addressing the “National Science Day 2024” programme at Vigyan Bhawan, Dr. Jitendra Singh (Science and technology minister) said that India has successfully conducted its first human clinical trial of gene therapy for hemophilia A (FVIII) at the Christian Medical College, Vellore.
Hemophilia is a rare disease and of which treatment is difficult. It is a genetic disorder that affects body’s ability to form blood clots (a healthy process). Hemophilia A can be hereditary or acquired. It is a sex-linked disorder. The gene for hemophilia is carried on the X chromosome. This disease can be found more amongst males as compared to females because X chromosome in inherited by females and often the disease is transferred from the mother to the son. The history of hemophilia dates to the 2nd century AD, with the first ‘’modern’’ descriptions of the condition that appeared during the 1800s. At that time, transfusion medicine and hemophilia became closely linked, with blood transfusion being the only possible treatment option.
The reason behind the cause of hemophilia is the change in one of the genes, that sends instructions to the clotting factor proteins for blood clots which is caused due to a decrease in clotting factor VIII. The severity of hemophilia that a person has is determined by the amount of factor in the blood.
The conditions that hemophilia causes are internal bleeding and external bleeding. Internal bleeding can lead to bruises, lumps in the body, joint swelling, joint damage, and also organ damage. The common symptoms include nosebleeds, heavy menstrual bleeding, blood in the urine and coughing blood.
The treatment of this Involves replacement therapy which necessitates infusing clotting factor into the bloodstream to help the blood clot. Other treatments are there such as surgeries to repair damage.
The gene therapy is a technique that alters a person’s genes to cure the disease. Gene therapies work by several mechanisms such as replacing a disease prone gene with a healthier copy of that genes. Also, it launches a new or modified gene into the body to help in treating a disease. The main medication to treat haemophilia A is a concentrated FVIII product called clotting factor.
The Christian medical college has previously brought many well-known achievements to India, including starting the first college of Nursing in 1946, performing the first ever reconstructive surgery for leprosy in the world (1948), performing the first successful open-heart surgery in India (1961), performing the first kidney transplant in India (1961) and also performing the first successful ABO incompatible kidney transplant in India (2009).
